Rare Disease

Recently, the Institute for Clinical and Economic Review (ICER) released an evidence report that investigated the comparative clinical effectiveness and value of emicizumab (marketed as Hemlibra, developed by Genentech) in the treatment of hemophilia A.

Currently, the FDA is evaluating 2 investigational drugs, both of which treat the underlying pathophysiology of hereditary transthyretin amyloidosis.

Sanofi–Regeron's offer to cut prices if payers improve access comes on the heels of the FDA Commissioner's critique of the "Kabuki" constructs that harm the sickest patients.

In Canada, there exists no distinct regulatory or reimbursement pathway for orphan drugs. Instead, these products undergo the same review processes as any other drug. When a medicine is submitted for review, the Common Drug Review examines the clinical and economic evidence, and its expert committee issues a nonbinding positive or negative recommendation for listing on publicly funded drug plans.

Proprietary technology helps overcome the problem of long travel distances for those taking part in clinical trials.

During a discussion, 4 panelists addressed their main issues of growing up with rare diseases, including that physicians often doubted their feelings of pain and distress.

Researchers have identified a molecular target that could allow chimeric antigen receptor (CAR) T-cell therapy to be used in treating patients with glioblastoma. Although the heterogeneous expression of tumor-associated antigens limits the efficacy for CAR-redirected T cells for the treatment of glioblastoma, chondroitin sulfate proteoglycan 4 (CSPG4), a cell surface type 1 transmembrane protein, is highly expressed in a majority of glioblastoma specimens with limited heterogeneity.

Kazia Therapeutics Limited, an oncology-focused biotechnology company, announced on Friday that it has received the FDA’s Orphan Drug Designation for its investigational drug, GDC-0084, for the treatment of glioblastoma multiforme, the most aggressive form of primary brain cancer.

Drug maker Vertex has announced that the FDA has approved tezacaftor/ivacaftor and ivacaftor (Symdeko) for the treatment of the underlying cause of cystic fibrosis (CF) in patients aged 12 or older who have 2 copies of the F508del mutation in the cystic fibrosis transmembrane conductance regulator gene, or who have at least 1 genetic mutation that is responsive to treatment with tezacaftor/ivacaftor.

Merkel cell carcinoma (MCC) is a rare disease, but it's getting less rare. Study results presented at the American Academy of Dermatology 2018 Annual Meeting found that cases of MCC increased 95% between 2000 and 2013

Fibrocell Science has submitted an Investigational New Drug Application (IND) with the FDA for a gene therapy candidate to treat moderate to severe localized scleroderma.

Biotechnology company Avrobio has completed a $60 million Series B financing to advance multiple gene therapies, including AVR-RD-01, a proposed single-dose lentiviral gene therapy for Fabry disease (FD).

Only 5% of rare diseases have treatments, but approximately half have patient advocacy organizations; these groups have the potential to play major roles in positively influencing research and development of drugs, clinical trials, and regulations by championing funding and awareness efforts, forming connections between experts and drug developers, advocating for changes to regulation to expedite research, facilitating patient registries, or other initiatives.

The FDA approved the first radioactive drug, or radiopharmaceutical, to treat a rare type of cancer that affects the pancreas or gastrointestinal tract called gastroenteropancreatic neuroendocrine tumors (GEP-NETs). Lutathera (lutetium Lu 177 dotatate) is cleared for adult patients with somatostatin receptor-positive GEP-NETs.

Researchers were especially concerned about barriers for patients with familial hypercholesterolemia, whose needs would seem clear cut but who nonetheless faced costly hurdles, such as genetic testing.

Benitec Biopharma, an Australia-based drug developer, has received the FDA’s Orphan Drug designation for BB-301, an investigational drug for the treatment of oculopharyngeal muscular dystrophy.

Why healthy adults should still get the flu vaccine; President Donald Trump undergoes first medical checkup of his presidency; review of Luxturna finds the $850,000 gene therapy needs a price discount.

Recently, the FDA granted a breakthrough therapy designation to eltrombopag (Promacta, Novartis) for combination use with standard immunosuppressive therapy as a first-line treatment for patients with severe aplastic anemia (SAA).

The approval will expand the currently approved indication for the prevention of skeletal-related events in patients with bone metastases from solid tumors to also include patients with multiple myeloma.

Several studies have suggested that inflammation plays a role in Huntington disease (HD), and a recent review, published in Neural Regeneration Research, explored the anti-inflammatory and immunomodulatory agents that have been investigated as possible treatments for HD.

New vision loss gene therapy gets a price tag below the expected $1 million mark; new evidence finds that the prevalence of autism spectrum disorders has plateaued; hospitals are ill-equipped to care for dementia patients, but a new effort could change that.

While FoundationOne CDx, the comprehensive companion diagnostic test for solid tumors, gives patients the ability to be accurately matched with a targeted therapy, it also has potential benefits for patients with a less common types of cancers, said Stuart Goldberg, MD, chief scientific officer, Cota, in an interview with The American Journal of Managed Care®.

The FDA approved Spark Therapeutics Inc.’s voretigene neparvovec-rzyl (Luxturna), the first gene therapy for inherited vision loss caused by faulty gene mutations.

In a session at the 59th American Society of Hematology Annual Meeting and Exposition in Atlanta, Georgia, Brian Curtis, PhD, of the BloodCenter of Wisconsin Blood Research Institute, highlighted drugs other than chemotherapy that may cause neutropenia in patients.

Including the modified brentuximab antibody in the treatment regimen improved modified progression-free survival by 5%, although the rates of neutropenia and infections were higher in patients administered the brentuximab-containing regimen.